ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3647A>G (p.Lys1216Arg)

dbSNP: rs1595840860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788408 SCV000927506 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Invitae RCV002535775 SCV003281878 uncertain significance Hypertrophic cardiomyopathy 2022-02-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 636550). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 29415625). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1216 of the MYBPC3 protein (p.Lys1216Arg).

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